2022
Ancient DNA reveals five streams of migration into Micronesia and matrilocality in early Pacific seafarers
Liu YC, Hunter-Anderson R, Cheronet O, Eakin J, Camacho F, Pietrusewsky M, Rohland N, Ioannidis A, Athens JS, Douglas MT, Ikehara-Quebral RM, Bernardos R, Culleton BJ, Mah M, Adamski N, Broomandkhoshbacht N, Callan K, Lawson AM, Mandl K, Michel M, Oppenheimer J, Stewardson K, Zalzala F, Kidd K, Kidd J, Schurr TG, Auckland K, Hill AVS, Mentzer AJ, Quinto-Cortés CD, Robson K, Kennett DJ, Patterson N, Bustamante CD, Moreno-Estrada A, Spriggs M, Vilar M, Lipson M, Pinhasi R, Reich D. Ancient DNA reveals five streams of migration into Micronesia and matrilocality in early Pacific seafarers. Science 2022, 377: 72-79. PMID: 35771911, PMCID: PMC9983687, DOI: 10.1126/science.abm6536.Peer-Reviewed Original ResearchConceptsEast Asian sourcesStreams of migrationSouthwest Pacific populationsPapuan ancestryRemote OceaniaGenome-wide dataAncient DNAModern individualsNew BritainAsian sourcesMariana ArchipelagoNew GuineansMicronesiaEast AsiansPacific populationsMale migrantsAncestryBritainMatrilocalityOceanianPolynesiansOceaniaCommunityArchipelagoSeafarers
2021
STAT3 polymorphisms in North Africa and its implication in breast cancer
Ziadi W, Boussetta S, Elkamel S, Pakstis AJ, Kidd KK, Medimegh I, Elgaaied A, Cherni L. STAT3 polymorphisms in North Africa and its implication in breast cancer. Molecular Genetics & Genomic Medicine 2021, 9: e1744. PMID: 34251094, PMCID: PMC8404238, DOI: 10.1002/mgg3.1744.Peer-Reviewed Original ResearchConceptsNorth African populationsAfrican populationsSTAT3 regionSingle nucleotide polymorphismsRare haplotypesHsa-mirMiR databaseMajor haplotypesGenesNucleotide polymorphismsHaplotypesSNPsSTAT3Allele frequenciesRs7211777Tunisian populationPolymorphismPopulationDiversityNorth AfricaAllelesSignificant frequencyRecombinationAssaysCancerGenetic diversity of the North African population revealed by the typing of SNPs in the DRD2/ANKK1 genomic region
Mestiri S, Boussetta S, Pakstis AJ, Elkamel S, Elgaaied ABA, Kidd KK, Cherni L. Genetic diversity of the North African population revealed by the typing of SNPs in the DRD2/ANKK1 genomic region. Gene 2021, 777: 145466. PMID: 33524518, DOI: 10.1016/j.gene.2021.145466.Peer-Reviewed Original ResearchMeSH KeywordsAdultAfrica, NorthernAllelesBlack PeopleEthnicityFemaleGene FrequencyGenetic Predisposition to DiseaseGenetic VariationGenomicsGenotypeGenotyping TechniquesHaplotypesHeterozygoteHuman MigrationHumansLinkage DisequilibriumMaleMiddle AgedPolymorphism, Single NucleotideProtein Serine-Threonine KinasesReceptors, Dopamine D2ConceptsNorth African populationsGenetic diversitySingle nucleotide polymorphismsGenetic structureAncestral gene poolPeculiar genetic structureLowest average heterozygosityNorth African onesAfrican populationsHigh linkage disequilibriumGenetic driftGenomic regionsAverage heterozygosityGene poolSame locusLinkage disequilibriumDisequilibrium analysisGenetic componentGenesNucleotide polymorphismsLociReceptor geneDiversityHuman populationEuropean populations
2019
Genetic relationships of European, Mediterranean, and SW Asian populations using a panel of 55 AISNPs
Pakstis AJ, Gurkan C, Dogan M, Balkaya HE, Dogan S, Neophytou PI, Cherni L, Boussetta S, Khodjet-El-Khil H, Ben Ammar ElGaaied A, Salvo NM, Janssen K, Olsen GH, Hadi S, Almohammed EK, Pereira V, Truelsen DM, Bulbul O, Soundararajan U, Rajeevan H, Kidd JR, Kidd KK. Genetic relationships of European, Mediterranean, and SW Asian populations using a panel of 55 AISNPs. European Journal Of Human Genetics 2019, 27: 1885-1893. PMID: 31285530, PMCID: PMC6871633, DOI: 10.1038/s41431-019-0466-6.Peer-Reviewed Original ResearchMixture deconvolution by massively parallel sequencing of microhaplotypes
Bennett L, Oldoni F, Long K, Cisana S, Madella K, Wootton S, Chang J, Hasegawa R, Lagacé R, Kidd KK, Podini D. Mixture deconvolution by massively parallel sequencing of microhaplotypes. International Journal Of Legal Medicine 2019, 133: 719-729. PMID: 30758713, DOI: 10.1007/s00414-019-02010-7.Peer-Reviewed Original Research
2014
Maritime route of colonization of Europe
Paschou P, Drineas P, Yannaki E, Razou A, Kanaki K, Tsetsos F, Padmanabhuni SS, Michalodimitrakis M, Renda MC, Pavlovic S, Anagnostopoulos A, Stamatoyannopoulos JA, Kidd KK, Stamatoyannopoulos G. Maritime route of colonization of Europe. Proceedings Of The National Academy Of Sciences Of The United States Of America 2014, 111: 9211-9216. PMID: 24927591, PMCID: PMC4078858, DOI: 10.1073/pnas.1320811111.Peer-Reviewed Original ResearchConceptsSouthern European coastsGene flowGenome-wide DNA polymorphismsEuropean coastsWest clineDNA polymorphismsNeolithic farmersCoastal routeMediterranean SeaNetwork analysisMediterranean coastMainland EuropeNeolithic populationsCentral EuropeClineCoastGenesColonizationNear EastStriking structurePolymorphismPopulationAnatoliaHypothesisIslandsA Form of the Metabolic Syndrome Associated with Mutations in DYRK1B
Keramati AR, Fathzadeh M, Go GW, Singh R, Choi M, Faramarzi S, Mane S, Kasaei M, Sarajzadeh-Fard K, Hwa J, Kidd KK, Babaee Bigi MA, Malekzadeh R, Hosseinian A, Babaei M, Lifton RP, Mani A. A Form of the Metabolic Syndrome Associated with Mutations in DYRK1B. New England Journal Of Medicine 2014, 370: 1909-1919. PMID: 24827035, PMCID: PMC4069260, DOI: 10.1056/nejmoa1301824.Peer-Reviewed Original ResearchConceptsKinase-like domainMapping susceptibility genesHistidine 90Disease-causing genesFunctional characterizationDisease genesDYRK1BKey gluconeogenic enzymesGenetic analysisCardiovascular risk traitsWhole-exome sequencingDistinct familiesLinkage analysisSecond mutationPosition 102Susceptibility genesFamily membersLarge familyGenesCausative mutationsUnaffected family membersMutationsFunction activityAffected family membersGluconeogenic enzymesExtensive sequence variation in the 3′ untranslated region of the KRAS gene in lung and ovarian cancer cases
Kim M, Chen X, Chin L, Paranjape T, Speed W, Kidd K, Zhao H, Weidhaas J, Slack FJ. Extensive sequence variation in the 3′ untranslated region of the KRAS gene in lung and ovarian cancer cases. Cell Cycle 2014, 13: 1030-1040. PMID: 24552817, PMCID: PMC3984301, DOI: 10.4161/cc.27941.Peer-Reviewed Original ResearchMeSH Keywords3' Untranslated RegionsCarcinoma, Non-Small-Cell LungCarcinoma, Ovarian EpithelialCase-Control StudiesFemaleHumansLung NeoplasmsMicroRNAsNeoplasms, Glandular and EpithelialOvarian NeoplasmsPolymorphism, Single NucleotideProto-Oncogene ProteinsProto-Oncogene Proteins p21(ras)Ras ProteinsConceptsMiRNA complementary sitesSequence variationComplementary sitesSingle nucleotide polymorphismsUntranslated regionRegulation of genesHigh-throughput sequencingExtensive sequence variationRegulation of KRASParticular single nucleotide polymorphismsOvarian cancer casesCapture enrichmentHuman diseasesSequence variantsImportant regulatorFunctional roleMiR-181Additional sequence variantsGenetic biomarkersCellular proliferationGenesNucleotide polymorphismsKRAS geneCancer casesUTR
2012
Genome-wide association study of Tourette's syndrome
Scharf JM, Yu D, Mathews CA, Neale BM, Stewart SE, Fagerness JA, Evans P, Gamazon E, Edlund CK, Service SK, Tikhomirov A, Osiecki L, Illmann C, Pluzhnikov A, Konkashbaev A, Davis LK, Han B, Crane J, Moorjani P, Crenshaw AT, Parkin MA, Reus VI, Lowe TL, Rangel-Lugo M, Chouinard S, Dion Y, Girard S, Cath DC, Smit JH, King RA, Fernandez TV, Leckman JF, Kidd KK, Kidd JR, Pakstis AJ, State MW, Herrera LD, Romero R, Fournier E, Sandor P, Barr CL, Phan N, Gross-Tsur V, Benarroch F, Pollak Y, Budman CL, Bruun RD, Erenberg G, Naarden AL, Lee PC, Weiss N, Kremeyer B, Berrío GB, Campbell DD, Cardona Silgado JC, Ochoa WC, Mesa Restrepo SC, Muller H, Valencia Duarte AV, Lyon GJ, Leppert M, Morgan J, Weiss R, Grados MA, Anderson K, Davarya S, Singer H, Walkup J, Jankovic J, Tischfield JA, Heiman GA, Gilbert DL, Hoekstra PJ, Robertson MM, Kurlan R, Liu C, Gibbs JR, Singleton A, Hardy J, Strengman E, Ophoff R, Wagner M, Moessner R, Mirel D, Posthuma D, Sabatti C, Eskin E, Conti D, Knowles J, Ruiz-Linares A, Rouleau G, Purcell S, Heutink P, Oostra B, McMahon W, Freimer N, Cox N, Pauls D. Genome-wide association study of Tourette's syndrome. Molecular Psychiatry 2012, 18: 721-728. PMID: 22889924, PMCID: PMC3605224, DOI: 10.1038/mp.2012.69.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAttention Deficit Disorder with HyperactivityCase-Control StudiesChromosomes, Human, Pair 9FemaleFibrillar CollagensGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansInternational CooperationMaleMeta-Analysis as TopicObsessive-Compulsive DisorderPolymorphism, Single NucleotideTourette SyndromeWhite PeopleYoung AdultConceptsGenome-wide association studiesFirst genome-wide association studyAssociation studiesTop signalsFull genetic architectureAncestry-matched controlsEuropean ancestry samplesGenetic architectureGWAS dataComplex inheritanceEuropean-derived populationsSusceptibility variantsSusceptibility genesEventual identificationEuropean ancestryCosta RicaChromosome 9q32Familial recurrence rateNorth AmericaComplete understandingAmerican populationCentral ValleyNeuropsychiatric diseasesDevelopmental disordersGenes
2011
An Application of the Elastic Net for an Endophenotype Analysis
Palejev D, Hwang W, Landi N, Eastman M, Frost SJ, Fulbright RK, Kidd JR, Kidd KK, Mason GF, Mencl WE, Yrigollen C, Pugh KR, Grigorenko EL. An Application of the Elastic Net for an Endophenotype Analysis. Behavior Genetics 2011, 41: 120-124. PMID: 21229297, PMCID: PMC3613288, DOI: 10.1007/s10519-011-9443-8.Peer-Reviewed Original ResearchRare BRCA1 haplotypes including 3’UTR SNPs associated with breast cancer risk
Pelletier C, Speed WC, Paranjape T, Keane K, Blitzblau R, Hollestelle A, Safavi K, van den Ouweland A, Zelterman D, Slack FJ, Kidd KK, Weidhaas JB. Rare BRCA1 haplotypes including 3’UTR SNPs associated with breast cancer risk. Cell Cycle 2011, 10: 90-99. PMID: 21191178, PMCID: PMC3048078, DOI: 10.4161/cc.10.1.14359.Peer-Reviewed Original ResearchConceptsGenetic markersRare haplotypesNew genetic markersBRCA1 3'UTRSequence mutationsMicroRNA bindingFunctional variantsSuch polymorphismsHaplotypesMutationsBRCA1Haplotype analysisPolymorphismSNPsRegion polymorphismsVariantsFunctional polymorphismsBreast cancer subtypesCancer subtypesMarkersBRCA1 haplotypeMiRNALarge populationBRCA1 mutationsBinding
1999
Global variation in the frequencies of functionally different catechol-O-methyltransferase alleles
Palmatier M, Kang A, Kidd K. Global variation in the frequencies of functionally different catechol-O-methyltransferase alleles. Biological Psychiatry 1999, 46: 557-567. PMID: 10459407, DOI: 10.1016/s0006-3223(99)00098-0.Peer-Reviewed Original ResearchConceptsRestriction site polymorphismsSingle nucleotide polymorphismsAllele frequenciesDifferent population frequenciesControl allele frequenciesEnzyme activity levelsAncestral alleleCandidate genesPopulation-based association studyAssociation studiesSite polymorphismFirst global surveyNucleotide polymorphismsAllelesEnzyme activityPopulation frequencyPolymorphismDifferent populationsCOMT enzyme activityActivity alleleLow-activity alleleGenesProteinGlobal variationPopulationA paradigm for finding genes for a complex human trait: Polycystic ovary syndrome and follistatin
Odunsi K, Kidd K. A paradigm for finding genes for a complex human trait: Polycystic ovary syndrome and follistatin. Proceedings Of The National Academy Of Sciences Of The United States Of America 1999, 96: 8315-8317. PMID: 10411866, PMCID: PMC33617, DOI: 10.1073/pnas.96.15.8315.Peer-Reviewed Original ResearchGenome scan for linkage to Gilles de la Tourette syndrome
Barr C, Wigg K, Pakstis A, Kurlan R, Pauls D, Kidd K, Tsui L, Sandor P. Genome scan for linkage to Gilles de la Tourette syndrome. American Journal Of Medical Genetics 1999, 88: 437-445. PMID: 10402514, DOI: 10.1002/(sici)1096-8628(19990820)88:4<437::aid-ajmg24>3.0.co;2-e.Peer-Reviewed Original ResearchNo Association Between DRD2 Locus and Alcoholism After Controlling the ADH and ALDH Genotypes in Chinese Han Population
Lee J, Lu R, Ko H, Chang F, Yin S, Pakstis A, Kidd K. No Association Between DRD2 Locus and Alcoholism After Controlling the ADH and ALDH Genotypes in Chinese Han Population. Alcohol Clinical And Experimental Research 1999, 23: 592-599. PMID: 10235293, DOI: 10.1111/j.1530-0277.1999.tb04159.x.Peer-Reviewed Original ResearchGenealogy reconstruction from short tandem repeat genotypes in an Amazonian population
Calafell F, Shuster A, Speed W, Kidd J, Black F, Kidd K. Genealogy reconstruction from short tandem repeat genotypes in an Amazonian population. American Journal Of Biological Anthropology 1999, 108: 137-146. PMID: 9988377, DOI: 10.1002/(sici)1096-8644(199902)108:2<137::aid-ajpa1>3.0.co;2-k.Peer-Reviewed Original Research
1998
OA1 Mutations and Deletions in X-Linked Ocular Albinism
Schnur R, Gao M, Wick P, Keller M, Benke P, Edwards M, Grix A, Hockey A, Jung J, Kidd K, Kistenmacher M, Levin A, Lewis R, Musarella M, Nowakowski R, Orlow S, Pagon R, Pillers D, Punnett H, Quinn G, Tezcan K, Wagstaff J, Weleber R. OA1 Mutations and Deletions in X-Linked Ocular Albinism. American Journal Of Human Genetics 1998, 62: 800-809. PMID: 9529334, PMCID: PMC1377018, DOI: 10.1086/301776.Peer-Reviewed Original Research
1997
A Novel, Heritable, Expanding CTG Repeat in an Intron of the SEF2-1 Gene on Chromosome 18q21.1
Breschel T, McInnis M, Margolis R, Sirugo G, Corneliussen B, Simpson S, McMahon F, MacKinnon D, Xu J, Pleasant N, Huo Y, Ashworth R, Grundstrom C, Grundstrom T, Kidd K, DePaulo J, Ross C. A Novel, Heritable, Expanding CTG Repeat in an Intron of the SEF2-1 Gene on Chromosome 18q21.1. Human Molecular Genetics 1997, 6: 1855-1863. PMID: 9302263, DOI: 10.1093/hmg/6.11.1855.Peer-Reviewed Original ResearchMeSH KeywordsAllelesBase SequenceBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsBipolar DisorderBlotting, SouthernCell LineChromosomes, Human, Pair 18Cloning, MolecularDNA-Binding ProteinsFemaleGene FrequencyHelix-Loop-Helix MotifsHumansIntronsMaleMolecular Sequence DataPedigreeSequence AnalysisTCF Transcription FactorsTrans-ActivatorsTranscription Factor 4Transcription Factor 7-Like 2 ProteinTranscription FactorsTrinucleotide RepeatsConceptsCEPH reference pedigreesSouthern blot analysisReference pedigreesUnstable alleleDNA binding proteinTriplet repeat mutationBlot analysisCTG repeatsTranscriptional regulationGenomic digestsHuman chromosomesKb cloneStable allelesCandidate genesAbnormal phenotypeBinding proteinRepeatsRepeat lociBipolar pedigreesGenesChromosome 18q21.1Repeat mutationsSomatic mutationsIntronsAllelesDifferential Structuring of Human Populations for Homologous X and Y Microsatellite Loci
Scozzari R, Cruciani F, Malaspina P, Santolamazza P, Ciminelli B, Torroni A, Modiano D, Wallace D, Kidd K, Olckers A, Moral P, Terrenato L, Akar N, Qamar R, Mansoor A, Mehdi S, Meloni G, Vona G, Cole D, Cai W, Novelletto A. Differential Structuring of Human Populations for Homologous X and Y Microsatellite Loci. American Journal Of Human Genetics 1997, 61: 719-733. PMID: 9326337, PMCID: PMC1715969, DOI: 10.1086/515500.Peer-Reviewed Original ResearchHomozygosity by descent for a rare mutation in the myophosphorylase gene is associated with variable phenotypes in a Druze family with McArdle disease.
Iyengar S, Kalinsky H, Weiss S, Korostishevsky M, Sadeh M, Zhao Y, Kidd K, Bonne-Tamir B. Homozygosity by descent for a rare mutation in the myophosphorylase gene is associated with variable phenotypes in a Druze family with McArdle disease. Journal Of Medical Genetics 1997, 34: 391. PMID: 9152836, PMCID: PMC1050946, DOI: 10.1136/jmg.34.5.391.Peer-Reviewed Original Research